Molecular and Synaptic Bases of CDKL5 Disorder

2018 ◽  
Vol 79 (1) ◽  
pp. 8-19 ◽  
Author(s):  
Yong-Chuan Zhu ◽  
Zhi-Qi Xiong
Keyword(s):  
Cdkl5 Disorder

scholarly journals The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

2012 ◽  
Vol 21 (3) ◽  
pp. 266-273 ◽  
Author(s):  
Stephanie Fehr ◽  
Meredith Wilson ◽  
Jenny Downs ◽  
Simon Williams ◽  
Alessandra Murgia ◽  
...  
Keyword(s):  
Early Onset ◽  
Clinical Entity ◽  
Cdkl5 Disorder

scholarly journals Molecular and genetic insights into an infantile epileptic encephalopathy – CDKL5 disorder

2017 ◽  
Vol 12 (1) ◽  
pp. 1-6 ◽  
Author(s):  
Ailing Zhou ◽  
Song Han ◽  
Zhaolan Joe Zhou
Keyword(s):  
Epileptic Encephalopathy ◽  
Cdkl5 Disorder

scholarly journals Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder

2018 ◽  
Vol 2018 ◽  
pp. 1-18 ◽  
Author(s):  
Claudia Fuchs ◽  
Laura Gennaccaro ◽  
Stefania Trazzi ◽  
Stefano Bastianini ◽  
Simone Bettini ◽  
...  
Keyword(s):  
Animal Model ◽  
Hippocampal Neurons ◽  
Motor Coordination ◽  
Neurodevelopmental Disorder ◽  
Preclinical Studies ◽  
Spine Density ◽  
Heterozygous Female ◽  
Comprehensive Overview ◽  
Age Related ◽  
Cdkl5 Disorder

CDKL5 disorder is a severe neurodevelopmental disorder caused by mutations in the X-linked CDKL5 (cyclin-dependent kinase-like five) gene. CDKL5 disorder primarily affects girls and is characterized by early-onset epileptic seizures, gross motor impairment, intellectual disability, and autistic features. Although all CDKL5 female patients are heterozygous, the most valid disease-related model, the heterozygous female Cdkl5 knockout (Cdkl5 +/−) mouse, has been little characterized. The lack of detailed behavioral profiling of this model remains a crucial gap that must be addressed in order to advance preclinical studies. Here, we provide a behavioral and molecular characterization of heterozygous Cdkl5 +/− mice. We found that Cdkl5 +/− mice reliably recapitulate several aspects of CDKL5 disorder, including autistic-like behaviors, defects in motor coordination and memory performance, and breathing abnormalities. These defects are associated with neuroanatomical alterations, such as reduced dendritic arborization and spine density of hippocampal neurons. Interestingly, Cdkl5 +/− mice show age-related alterations in protein kinase B (AKT) and extracellular signal-regulated kinase (ERK) signaling, two crucial signaling pathways involved in many neurodevelopmental processes. In conclusion, our study provides a comprehensive overview of neurobehavioral phenotypes of heterozygous female Cdkl5 +/− mice and demonstrates that the heterozygous female might be a valuable animal model in preclinical studies on CDKL5 disorder.

Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients

Epilepsia ◽  
2017 ◽  
Vol 58 (8) ◽  
pp. 1415-1422 ◽  
Author(s):  
Zhan Lim ◽  
Kingsley Wong ◽  
Heather E. Olson ◽  
Ann M. Bergin ◽  
Jenny Downs ◽  
...  
Keyword(s):  
Ketogenic Diet ◽  
Refractory Epilepsy ◽  
Cdkl5 Disorder

scholarly journals There is variability in the attainment of developmental milestones in the CDKL5 disorder

2015 ◽  
Vol 7 (1) ◽  
Author(s):  
Stephanie Fehr ◽  
Helen Leonard ◽  
Gladys Ho ◽  
Simon Williams ◽  
Nick de Klerk ◽  
...  
Keyword(s):  
Developmental Milestones ◽  
Cdkl5 Disorder

scholarly journals Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder

Neurology ◽  
2016 ◽  
Vol 87 (21) ◽  
pp. 2206-2213 ◽  
Author(s):  
Stephanie Fehr ◽  
Kingsley Wong ◽  
Richard Chin ◽  
Simon Williams ◽  
Nick de Klerk ◽  
...  
Keyword(s):  
Functional Abilities ◽  
Cdkl5 Disorder

scholarly journals Functional abilities in children and adults with the CDKL5 disorder

2016 ◽  
Vol 170 (11) ◽  
pp. 2860-2869 ◽  
Author(s):  
Stephanie Fehr ◽  
Jenny Downs ◽  
Gladys Ho ◽  
Nick de Klerk ◽  
David Forbes ◽  
...  
Keyword(s):  
Functional Abilities ◽  
Cdkl5 Disorder

International study of the natural history, associated comorbidities and treatment of CDKL5-disorder

2017 ◽  
Vol 21 ◽  
pp. e23
Author(s):  
S. Amin ◽  
A.A. Mallick ◽  
J. Patel ◽  
A. Lux ◽  
A. Majumdar ◽  
...  
Keyword(s):  
Natural History ◽  
International Study ◽  
Cdkl5 Disorder

scholarly journals HDAC4: a key factor underlying brain developmental alterations in CDKL5 disorder

2016 ◽  
Vol 25 (18) ◽  
pp. 3887-3907 ◽  
Author(s):  
Stefania Trazzi ◽  
Claudia Fuchs ◽  
Rocchina Viggiano ◽  
Marianna De Franceschi ◽  
Emanuele Valli ◽  
...  
Keyword(s):  
Key Factor ◽  
Cdkl5 Disorder
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